Toriello–Carey syndrome is rare genetic condition which was first described in 1988 by Helga V. Toriello and John C. Carey. More particularly, it is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Pierre Robin sequence, hypotonia, mental retardation, postnatal growth retardation anddistinctive facial dysmorphology (including micrognathia (small jaw), telecanthus/hyertelorism (excessive space between the eyes), short palpebral fissures (small/short eyes), small nose, full cheeks, and small cupped ears). The exact cause of Toriello-Carey syndrome is unknown; however, the condition is genetic and is believed to be an autosomal recessive inheritance. Currently, there are only approximately 45 patients with a suspected and likely diagnosis of Toriello-Carey syndrome. There exist variability in symptoms from person to person; therefore, the treatment is symptomatic. Many of the patients diagnosed with the syndrome have died at an early age due to severe cardiac or brain abnormalities; therefore, there is limited information on a prognosis. However, the prognosis appears to be dismal due to severe growth retardation, mental retardation and variable degrees of developmental delay.
Clin Genet 2009: 75: 259–264 (with emphasis and additional information added)